primary autosomal recessive microcephaly 10

Primary autosomal recessive microcephaly-10 (MCPH10) is a rare genetic disorder characterized by extremely small head size at birth, typically more than 9 standard deviations below the mean for age. This condition is usually fatal and death occurs within the first year of life.

The key features of MCPH10 include:

• Extremely small head size (-9 SD) at birth
• Death usually occurring within the first year of life
• Microcephaly present from as early as week 32 of pregnancy

MCPH10 is caused by homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the disorder.

It's worth noting that MCPH10 is a severe form of primary microcephaly, and its symptoms are more pronounced compared to other forms of the disorder. The condition is often associated with nonprogressive mental retardation and reduced head circumference at birth.

References:

• [1] - A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-10 (MCPH10) is caused by homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
• [5] - Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year ...
• [6] - Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year ...

Based on the provided context, here are the signs and symptoms of primary autosomal recessive microcephaly (MCPH):

• Microcephaly: The head is much smaller than normal, often present at birth (congenital) [7].
• Intellectual disability: Most patients have nonprogressive mental retardation [8].
• Reduced head size: The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal [4].
• Short stature: Compared to others in their family, individuals with MCPH may have short stature [1][6].
• Mild seizures: Seizures may be present in some cases (10%) [2].
• Delayed speech and language development: Delayed speech and language development is common [3].
• Global developmental delay: Individuals with MCPH may experience global developmental delay [3].

It's worth noting that the symptoms of MCPH can vary from person to person, but these are some of the most commonly reported signs and symptoms.

Based on the provided context, here are some diagnostic tests for primary autosomal recessive microcephaly:

• Molecular genetic testing is available for several genes associated with this condition [1].
• Sequence analysis of the entire coding region using Next-Generation (NGS)/Massively parallel sequencing (MPS) can be used to diagnose this condition [2].
• Prenatal ultrasound can also be used to diagnose microcephaly, although absence of microcephaly does not exclude the condition [1].

It's worth noting that these tests are typically performed by a geneticist or a medical geneticist.

References: [1] Context result 1 [2] Context result 2

Treatment Options for Primary Autosomal Recessive Microcephaly

Unfortunately, there is no specific treatment available to reverse or cure primary autosomal recessive microcephaly (MCPH). However, various management strategies can help alleviate symptoms and improve the quality of life for individuals affected by this condition.

• Symptomatic care: Treatment focuses on managing related complications, such as seizures, developmental delays, and speech difficulties. A multidisciplinary team, including a pediatric neurologist, developmental pediatrician, and speech-language pathologist, can provide comprehensive care.
• Epilepsy management: Anticonvulsants are commonly used to stabilize seizures in individuals with MCPH.
• Physical and speech therapy: These therapies

Differential Diagnosis of Primary Autosomal Recessive Microcephaly (MCPH)

Primary autosomal recessive microcephaly (MCPH) is a rare disorder characterized by reduced head circumference at birth, with no major brain abnormalities. When diagnosing MCPH, it's essential to consider differential diagnoses that may present similar symptoms.

Possible Differential Diagnoses:

• Seckel Syndrome: A rare genetic disorder characterized by microcephaly, intellectual disability, and distinctive facial features.
• Microcephalic Primordial Dwarfism: A group of disorders characterized by severe microcephaly, short stature, and intellectual disability.
• Other Rare Genetic Disorders: Such as primordial dwarfism, megalencephalic leukodystrophy with subcortical cysts, and others.

Diagnostic Approach:

A comprehensive diagnostic approach is necessary to rule out these differential diagnoses. This may involve:

• Genetic Testing: To identify genetic mutations associated with MCPH and other rare disorders.
• Imaging Studies: Such as ultrasound and MRI scans to evaluate brain structure and development.
• Clinical Evaluation: A thorough medical history, physical examination, and assessment of cognitive function.

References:

• [9] Autosomal recessive primary microcephaly (MCPH) is a rare disorder characterized by reduced head circumference at birth, with no major brain abnormalities. It ...
• [10] by M von der Hagen · 2014 · Cited by 276 — The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes/ ...